Search
lissencephaly X-linked type 1 (LISX1)
classic lissencephaly
Pathology:
- affected boys show an abnormally thick cortex with absent or severely reduced gyri
Genetics:
- defects associated with defects in DCX
- t(X;2)(q22.3;p25.1)
- female patients display a less severe phenotype referred to as "doublecortex"
Clinical manifestations:
- mental retardation
- seizures that are more severe in male patients
- feeding problems
- abnormal muscular tone
- severe to profound psychomotor retardation
Related
double cortex/X-linked lissencephaly syndrome; X-linked subcortical laminar heterotopia/lissencephaly syndrome; subcortical band heterotopia X-linked
General
lissencephaly; agyria
Database Correlations
OMIM 300067
References
OMIM :accession 300067